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Biomedical subjects

M Roubicek

Publications and source records attributed to M Roubicek.

13 recordsLinked to original sources
PubMed1996

[Thyroid cancer: 20 years experience in a hospital].

A retrospective analysis of 117 cases of thyroid cancer diagnosed and/or treated at the Hospital Privado de Comunidad in Mar del Plata, Argentina, between 1974 and 1993 is presented and compared to previously published reports. Mean age at diagnosis was 54.3 years (range 17-88). Follow-up was 8.2 +/- 5.7 years. One third of patients had a previous history of thyroid disease. Histologic types had frequencies comparable to other series: 67.5% papillary, 15.4% follicular, 6% medullary, 3.4% Hürthle-cell and 6.8% undifferentiated. There was one case of lymphoma. Female to male ratio was 4.2:1 (95 females, 22 males). Higher age at diagnosis (over 63 years), higher tumor staging (TNM III or IV) and histologic type (undifferentiated, Hürthle and medullary) were important unfavorable prognostic factors for recurrence or death from the disease, but sex, type of surgery, postoperative radiation and hormonal therapy were not. Undifferentiated carcinomas (n = 8) had 100% mortality (survival 1-17 months after diagnosis, mean 5.5) and Hürthle-cell cancer had 75% mortality (survival 22-46 months, mean 33). Fine needle aspiration biopsy proved to be a useful diagnostic procedure, with an elevated positive predictive value (96%) and a moderate sensitivity (75%). A gradual decrease in surgical complications was observed, the last case of hypoparathyroidism occurring in 1986.

Adolescent↗
PubMed1996

Erythrocyte alkaline phosphatase in patients with myotonic muscle disorders.

The allosteric behaviour of the p-nitrophenyl-phosphatase (E.C.3.1.3.1.) from membrane erythrocytes was investigated in the following multisystemic diseases: myotonic dystrophy, limb-girdle muscular dystrophy, Charcot-Marie-Tooth and juvenile spinal muscular atrophy; in myotonia congenita, which is not a multisystemic disease, and in healthy controls. The Hill coefficient in F inhibition in controls was different from that in multisystemic diseases patients but not from that in myotonia congenita patients. Changes in the cooperative type kinetics would suggest that the interaction membrane-enzyme in controls and in patients with neuromuscular disorders is only different for multisystemic diseases.

Alkaline Phosphatase↗
PubMed1995

Jumping genes.

Explore the source record for details and available documents.

Crossing Over, Genetic↗
PubMed1993

[Houssay's phenomenon in man].

The phenomenon of clinical improvement of diabetes mellitus after occurrence of pituitary insufficiency has been reported occasionally in the medical literature, as a human counterpart of Houssay's experiment with hypophysectomized diabetic animals. We report the case of a 76-year-old woman who developed diabetes in 1928, at the age of 14, and was treated with low doses of insulin. At the age of 29, during the 7th month of her second pregnancy, she suddenly developed severe headaches and soon afterwards an intense polyuria which subsided under treatment with posterior pituitary extract. Her pregnancy followed to term but uterine stimulants had to be used at delivery because of lack of contractions. She was unable to nurse her baby and a permanent amenorrhea ensued. She continued using the posterior pituitary powder for several years, after which she discontinued it without adverse effects. The dose of insulin was decreased gradually until its replacement by chloropropamide in 1967 and glibenclamide in 1970. The present dose of glibenclamide is 2.5 mg daily, on which she has occasional mild hypoglycemic reactions. When the medication was discontinued for 5 days glycemia rose to 450 mg/dl but responded immediately to 2.5 mg of the drug with a mild hypoglycemia. She never required thyroid hormone therapy. Glucocorticoid substitution was instituted recently because of evidence of mild adrenocortical insufficiency. Basal hormone levels were normal for thyroxin, thyrotropin, FSH, LH, prolactin, hGH and cortisol; the responses to pituitary stimulation with TRH and LHRH were subnormal or nil. Cortisol stimulation with ACTH was normal. Insulin levels rose moderately after stimulation with glucagon, and with glibenclamide, with simultaneous marked decrease in glycemia.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed1985

The clinical spectrum of alpha-L-iduronidase deficiency.

We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.

Adolescent↗
PubMed1984

Weyers acrodental dysostosis in a family.

A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.

Abnormalities, Multiple↗
PubMedDate not supplied

Heterogeneity of metatropic dysplasia.

Metatropic dysplasia is a neonatally manifest entity that is characterized clinically by a rapidly progressing kyphoscoliosis leading to severe shortening of the originally long trunk ("metatropism"). Major radiographic features include flattening and defective ossification of the vertebral bodies, a narrow thorax and a marked hypoplasia of the basilar portions of the ilia with crescent-shaped iliac crests. There is some evidence of genetic heterogeneity. From five personal observations and from a review of the literature we conclude that metatropic dysplasia comprises at least three genetic entities: (1) a nonlethal type with autosomal recessive transmission; (2) a nonlethal dominant type and (3) a lethal type with death before or shortly after birth and possibly autosomal recessive inheritance. A careful clinical and radiologic analysis permits their classification and differentiation from similar, not yet well-delineated disorders. Attention is also drawn to the possibility of atlanto-axial instability in metatropic dysplasia which may cause severe neurologic defects.

Adult↗